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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
- Source :
- Nature Communications, Vol 10, Iss 1, Pp 1-13 (2019)
- Publication Year :
- 2019
- Publisher :
- Nature Portfolio, 2019.
-
Abstract
- The biosynthesis of N6-threonylcarbamoylated adenosine 37 in tRNA (t6A) involves the YRDC enzyme and the KEOPS complex. Here, the authors report mutations in YRDC and the KEOPS component GON7 in Galloway-Mowat syndrome and determine the crystal structure of a GON7-containg subcomplex that suggests a role in KEOPS complex stability.
- Subjects :
- Science
Subjects
Details
- Language :
- English
- ISSN :
- 20411723
- Volume :
- 10
- Issue :
- 1
- Database :
- Directory of Open Access Journals
- Journal :
- Nature Communications
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.77cd12b7d5974fda8810f1a228293257
- Document Type :
- article
- Full Text :
- https://doi.org/10.1038/s41467-019-11951-x